Varaico: Literature-Extracted Genetic Variants

Gene:UBIAD1
Variant:p.H230R
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UBIAD1

NM_013319.3:p.H230R

Associated Papers

The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes.

Nickerson ML et al.

Human Mutation, 2013

UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.

Nickerson ML et al.

Plos One, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."